This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
Alternative Names
35 kDa CUG triplet repeat expansion dsRNA-binding protein C3H type zinc finger protein C3H zinc finger dsRNA-binding protein C3H Zn finger dsRNA binding protein DKFZp686P06174 EXP35 EXP40 EXP42 KIAA0428 muscleblind like splicing factor 1 muscleblind-like muscleblind-like 1 triplet-expansion RNA-binding protein zinc finger protein